Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74525745T>A | CA2563163565 | SLC16A2 | c.1027-5T>A (n.1027-5T>A) c.936-5T>A c.467-5T>A c.*31-5T>A (n.*31-5T>A) | |
X | g.74525745T>C | CA642553576 | SLC16A2 | c.1027-5T>C (n.1027-5T>C) c.936-5T>C c.467-5T>C c.*31-5T>C (n.*31-5T>C) | dbSNP gnomAD v2 |
X | g.74525745T= | CA2437508431 | SLC16A2 | c.1027-5T= (n.1027-5T=) c.936-5T= c.467-5T= c.*31-5T= (n.*31-5T=) | |
X | g.74525748A>C | CA413657812 | SLC16A2 | c.1027-2A>C (n.1027-2A>C) c.936-2A>C c.467-2A>C c.*31-2A>C (n.*31-2A>C) | |
X | g.74525748A>G | CA413657814 | SLC16A2 | c.1027-2A>G (n.1027-2A>G) c.936-2A>G c.467-2A>G c.*31-2A>G (n.*31-2A>G) | |
X | g.74525748A>T | CA413657813 | SLC16A2 | c.1027-2A>T (n.1027-2A>T) c.936-2A>T c.467-2A>T c.*31-2A>T (n.*31-2A>T) | |
X | g.74525749G>A | CA413657815 | SLC16A2 | c.1027-1G>A (n.1027-1G>A) c.936-1G>A c.467-1G>A c.*31-1G>A (n.*31-1G>A) | |
X | g.74525749G>C | CA413657817 | SLC16A2 | c.1027-1G>C (n.1027-1G>C) c.936-1G>C c.467-1G>C c.*31-1G>C (n.*31-1G>C) | |
X | g.74525749G>T | CA413657816 | SLC16A2 | c.1027-1G>T (n.1027-1G>T) c.936-1G>T c.467-1G>T c.*31-1G>T (n.*31-1G>T) | |
X | g.74525750A>C | CA413657818 | SLC16A2 | c.1027A>C (p.Met343Leu) c.936A>C c.467A>C c.*31A>C (n.*31A>C) | |
X | g.74525750A>G | CA413657819 | SLC16A2 | c.1027A>G (p.Met343Val) c.936A>G c.467A>G c.*31A>G (n.*31A>G) | |
X | g.74525750A>T | CA413657820 | SLC16A2 | c.1027A>T (p.Met343Leu) c.936A>T c.467A>T c.*31A>T (n.*31A>T) | |
X | g.74525751T>A | CA413657821 | SLC16A2 | c.1028T>A (p.Met343Lys) c.937T>A c.468T>A c.*32T>A (n.*32T>A) | |
X | g.74525751T>C | CA413657822 | SLC16A2 | c.1028T>C (p.Met343Thr) c.937T>C c.468T>C c.*32T>C (n.*32T>C) | |
X | g.74525751T>G | CA413657823 | SLC16A2 | c.1028T>G (p.Met343Arg) c.937T>G c.468T>G c.*32T>G (n.*32T>G) | |
X | g.74525752G>A | CA413657824 | SLC16A2 | c.1029G>A (p.Met343Ile) c.938G>A c.469G>A c.*33G>A (n.*33G>A) | |
X | g.74525752G>C | CA413657825 | SLC16A2 | c.1029G>C (p.Met343Ile) c.938G>C c.469G>C c.*33G>C (n.*33G>C) | |
X | g.74525752G>T | CA413657826 | SLC16A2 | c.1029G>T (p.Met343Ile) c.938G>T c.469G>T c.*33G>T (n.*33G>T) | |
X | g.74525752dup | CA2695234517 | SLC16A2 | c.1029dup (p.Lys344GlufsTer?) c.938dup c.469dup c.*33dup (n.*33dup) | |
X | g.74525753A>C | CA413657827 | SLC16A2 | c.1030A>C (p.Lys344Gln) c.939A>C c.470A>C c.*34A>C (n.*34A>C) | |
X | g.74525753A>G | CA413657828 | SLC16A2 | c.1030A>G (p.Lys344Glu) c.939A>G c.470A>G c.*34A>G (n.*34A>G) | |
X | g.74525753A>T | CA413657829 | SLC16A2 | c.1030A>T (p.Lys344Ter) c.939A>T c.470A>T c.*34A>T (n.*34A>T) | |
X | g.74525754A>C | CA413657832 | SLC16A2 | c.1031A>C (p.Lys344Thr) c.940A>C c.471A>C c.*35A>C (n.*35A>C) | |
X | g.74525754A>G | CA413657831 | SLC16A2 | c.1031A>G (p.Lys344Arg) c.940A>G c.471A>G c.*35A>G (n.*35A>G) | |
X | g.74525754A>T | CA413657830 | SLC16A2 | c.1031A>T (p.Lys344Met) c.940A>T c.471A>T c.*35A>T (n.*35A>T) | |
X | g.74525755G>A | CA517241097 | SLC16A2 | c.1032G>A (p.Lys344=) c.941G>A c.472G>A c.*36G>A (n.*36G>A) | |
X | g.74525755G>C | CA413657833 | SLC16A2 | c.1032G>C (p.Lys344Asn) c.941G>C c.472G>C c.*36G>C (n.*36G>C) | |
X | g.74525755G>T | CA413657834 | SLC16A2 | c.1032G>T (p.Lys344Asn) c.941G>T c.472G>T c.*36G>T (n.*36G>T) | |
X | g.74525756T>A | CA413657835 | SLC16A2 | c.1033T>A (p.Tyr345Asn) c.942T>A c.473T>A c.*37T>A (n.*37T>A) | |
X | g.74525756T>C | CA413657836 | SLC16A2 | c.1033T>C (p.Tyr345His) c.942T>C c.473T>C c.*37T>C (n.*37T>C) | dbSNP |
X | g.74525756T>G | CA413657837 | SLC16A2 | c.1033T>G (p.Tyr345Asp) c.942T>G c.473T>G c.*37T>G (n.*37T>G) | |
X | g.74525756T= | CA2437508432 | SLC16A2 | c.1033T= (p.Tyr345=) c.942T= c.473T= c.*37T= (n.*37T=) | |
X | g.74525757A>C | CA413657838 | SLC16A2 | c.1034A>C (p.Tyr345Ser) c.943A>C c.474A>C c.*38A>C (n.*38A>C) | |
X | g.74525757A>G | CA413657839 | SLC16A2 | c.1034A>G (p.Tyr345Cys) c.943A>G c.474A>G c.*38A>G (n.*38A>G) | |
X | g.74525757A>T | CA413657840 | SLC16A2 | c.1034A>T (p.Tyr345Phe) c.943A>T c.474A>T c.*38A>T (n.*38A>T) | |
X | g.74525758T>A | CA413657841 | SLC16A2 | c.1035T>A (p.Tyr345Ter) c.944T>A c.475T>A c.*39T>A (n.*39T>A) | |
X | g.74525758T>C | CA517241106 | SLC16A2 | c.1035T>C (p.Tyr345=) c.944T>C c.475T>C c.*39T>C (n.*39T>C) | dbSNP |
X | g.74525758T>G | CA413657842 | SLC16A2 | c.1035T>G (p.Tyr345Ter) c.944T>G c.475T>G c.*39T>G (n.*39T>G) | |
X | g.74525758T= | CA2437508433 | SLC16A2 | c.1035T= (p.Tyr345=) c.944T= c.475T= c.*39T= (n.*39T=) | |
X | g.74525759G>A | CA413657843 | SLC16A2 | c.1036G>A (p.Val346Met) c.945G>A c.476G>A c.*40G>A (n.*40G>A) | |
X | g.74525759G>C | CA413657844 | SLC16A2 | c.1036G>C (p.Val346Leu) c.945G>C c.476G>C c.*40G>C (n.*40G>C) | |
X | g.74525759G>T | CA413657845 | SLC16A2 | c.1036G>T (p.Val346Leu) c.945G>T c.476G>T c.*40G>T (n.*40G>T) | |
X | g.74525760T>A | CA413657847 | SLC16A2 | c.1037T>A (p.Val346Glu) c.946T>A c.477T>A c.*41T>A (n.*41T>A) | |
X | g.74525760T>C | CA413657848 | SLC16A2 | c.1037T>C (p.Val346Ala) c.946T>C c.477T>C c.*41T>C (n.*41T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.74525760T>G | CA413657846 | SLC16A2 | c.1037T>G (p.Val346Gly) c.946T>G c.477T>G c.*41T>G (n.*41T>G) | |
X | g.74525760T= | CA2437508434 | SLC16A2 | c.1037T= (p.Val346=) c.946T= c.477T= c.*41T= (n.*41T=) | |
X | g.74525761G>A | CA517241114 | SLC16A2 | c.1038G>A (p.Val346=) c.947G>A c.478G>A c.*42G>A (n.*42G>A) | gnomAD v4 |
X | g.74525761G>C | CA517241115 | SLC16A2 | c.1038G>C (p.Val346=) c.947G>C c.478G>C c.*42G>C (n.*42G>C) | |
X | g.74525761G= | CA2437508435 | SLC16A2 | c.1038G= (p.Val346=) c.947G= c.478G= c.*42G= (n.*42G=) | |
X | g.74525761G>T | CA10454492 | SLC16A2 | c.1038G>T (p.Val346=) c.947G>T c.478G>T c.*42G>T (n.*42G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |